Cellosaurus cell line FUi002-A (CVCL

Cross-references
Cell line name	FUi002-A
Synonyms	D6-5; D6#5
Accession	CVCL_VM11
Resource Identification Initiative	To cite this cell line use: FUi002-A (RRID:CVCL_VM11)
Comments	From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan. Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Arg1525Ter (c.4573C>T); ClinVar=VCV000189911; Zygosity=Heterozygous (PubMed=29981888).
Disease	Developmental and epileptic encephalopathy 6A (NCIt: C147071) Dravet syndrome (ORDO: Orphanet_33069)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=29981888; DOI=10.1016/j.scr.2018.06.008 Yasuyoshi Tanaka, Norimichi Higurashi, Naoto Shirasu, Shin-ichiro Yasunaga, Kevin Mello Moreira, Hideyuki Okano, Shinichi Hirose; Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene. Stem Cell Res. 31:11-15(2018)
Cell line databases/resources	hPSCreg; FUi002-A SKIP; SKIP005529
Encyclopedic resources	Wikidata; Q93557469
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	11